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Dysplasias with Predominant Metaphyseal Involvement 

Dysplasias with Predominant Metaphyseal Involvement
Dysplasias with Predominant Metaphyseal Involvement

Jürgen W. Spranger

, Paula W. Brill

, Christine Hall

, Gen Nishimura

, Andrea Superti-Furga

, and Sheila Unger

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date: 24 July 2021

This chapter discusses metaphyseal eysplasias and explores metaphyseal chondrodysplasia (Schmid type), cartilage-hair hypoplasia, metaphyseal dysplasia (Spahr type), metaphyseal anadysplasia, Shwachman syndrome, metaphyseal chondrodysplasia (Jansen type), Eiken dysplasia, and chronic infantile neurologic cutaneous and articular syndrome (CINCA). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.

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